Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. With disease progression, other muscles also may become affected. There is significant clinical variability and incomplete penetrance (summary by van den Boogaard et al., 2016).
For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900). [from
OMIM]